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BBS2

Synonyms
BBS, RP74
External resources
Summary
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
17
Likely pathogenic
1
VUS
4,842
Likely benign
2,122
Benign
105

Patient phenotypes

Proportions of phenotypes among 17 patients carring pathogenic or likely pathogenic variants on BBS2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.1%
Abnormality of head or neck
29.4%
Abnormality of the cardiovascular system
29.4%
Abnormality of the musculoskeletal system
29.4%
Abnormality of the eye
23.5%
Growth abnormality
23.5%
Abnormality of limbs
17.6%
Abnormality of the digestive system
17.6%
Abnormality of the integument
17.6%
Abnormality of blood and blood-forming tissues
11.8%
Abnormality of the ear
11.8%
Abnormality of the immune system
11.8%
Abnormality of prenatal development or birth
5.9%
Abnormality of the endocrine system
5.9%
Abnormality of the genitourinary system
5.9%
Abnormality of the respiratory system
5.9%
Constitutional symptom
5.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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